Canonical Allele Identifier: CA2680454968

Gene: AHI1 AHI1-DT

Linked Data

• gnomAD v4: 6-135497810-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135497810G>C , CM000668.2:g.135497810G>C	GRCh38
NC_000006.11:g.135818948G>C , CM000668.1:g.135818948G>C	GRCh37
NC_000006.10:g.135860641G>C	NCBI36
NG_008643.1:g.4956C>G
NG_008643.2:g.4956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680033.1:c.-2326C>G (AHI1)	ENSP00000506426.1:n.-2326C>G
ENST00000681022.1:c.-2326C>G (AHI1)	ENSP00000505121.1:n.-2326C>G
NR_026805.1:n.10G>C (AHI1-DT)
NR_152842.1:n.10G>C (AHI1-DT)
NR_152843.1:n.10G>C (AHI1-DT)
NR_152844.1:n.10G>C (AHI1-DT)
NR_152845.1:n.10G>C (AHI1-DT)